Q9BVK2 (ALG8_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
January 25, 2012.
Version 101.
History...
Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase EC=2.4.1.265 Alternative name(s): Asparagine-linked glycosylation protein 8 homolog Dol-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichyl alpha-1,3-glucosyltransferase Dolichyl-P-Glc:Glc1Man9GlcNAc2-PP-dolichyl glucosyltransferase | ||||
| Gene names |
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| Organism | Homo sapiens (Human) | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 526 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Adds the second glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation. Transfers glucose from dolichyl phosphate glucose (Dol-P-Glc) onto the lipid-linked oligosaccharide Glc1Man9GlcNAc(2)-PP-Dol By similarity. |
| Catalytic activity | Dolichyl beta-D-glucosyl phosphate + D-Glc-alpha-(1->3)-D-Man-alpha-(1->2)-D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-[D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-(D-Man-alpha-(1->2)-D-Man-alpha-(1->6))-D-Man-alpha-(1->6)]-D-Man-beta-(1->4)-D-GlcNAc-beta-(1->4)-D-GlcNAc-diphosphodolichol = D-Glc-alpha-(1->3)-D-Glc-alpha-(1->3)-D-Man-alpha-(1->2)-D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-[D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-(D-Man-alpha-(1->2)-D-Man-alpha-(1->6))-D-Man-alpha-(1->6)]-D-Man-beta-(1->4)-D-GlcNAc-beta-(1->4)-D-GlcNAc-diphosphodolichol + dolichyl phosphate. |
| Pathway | |
| Subcellular location | Endoplasmic reticulum membrane; Multi-pass membrane protein By similarity. |
| Involvement in disease | Defects in ALG8 are the cause of congenital disorder of glycosylation type 1H (CDG1H) [MIM:608104]. CDGs are a family of severe inherited diseases caused by a defect in protein N-glycosylation. They are characterized by under-glycosylated serum proteins. These multisystem disorders present with a wide variety of clinical features, such as disorders of the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. Ref.4 |
| Sequence similarities | Belongs to the ALG6/ALG8 glucosyltransferase family. |
| Sequence caution | The sequence CAA12176.1 differs from that shown. Reason: Erroneous initiation. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Endoplasmic reticulum Membrane |
| Coding sequence diversity | Polymorphism |
| Disease | Congenital disorder of glycosylation Disease mutation |
| Domain | Transmembrane Transmembrane helix |
| Molecular function | Glycosyltransferase Transferase |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological process | dolichol-linked oligosaccharide biosynthetic process Traceable author statement. Source: Reactome post-translational protein modificationTraceable author statement. Source: Reactome protein N-linked glycosylation via asparagineTraceable author statement. Source: Reactome |
| Cellular component | endoplasmic reticulum membrane Traceable author statement. Source: Reactome integral to membraneInferred from electronic annotation. Source: UniProtKB-KW |
| Molecular function | alpha-1,3-mannosyltransferase activity Inferred from mutant phenotype Ref.3. Source: UniProtKB |
| Complete GO annotation... | |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 526 | 526 | Probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase | PRO_0000174162 | |||||
Regions | |||||||||
| Transmembrane | 4 – 24 | 21 | Helical; Potential | ||||||
| Transmembrane | 103 – 122 | 20 | Helical; Potential | ||||||
| Transmembrane | 143 – 163 | 21 | Helical; Potential | ||||||
| Transmembrane | 188 – 208 | 21 | Helical; Potential | ||||||
| Transmembrane | 238 – 258 | 21 | Helical; Potential | ||||||
| Transmembrane | 334 – 354 | 21 | Helical; Potential | ||||||
| Transmembrane | 368 – 388 | 21 | Helical; Potential | ||||||
| Transmembrane | 389 – 409 | 21 | Helical; Potential | ||||||
| Transmembrane | 427 – 449 | 23 | Helical; Potential | ||||||
| Transmembrane | 461 – 481 | 21 | Helical; Potential | ||||||
| Transmembrane | 488 – 508 | 21 | Helical; Potential | ||||||
Natural variations | |||||||||
| Natural variant | 47 | 1 | T → P in CDG1H. Ref.4 | VAR_023480 | |||||
| Natural variant | 222 | 1 | N → S. Ref.1 Ref.4 Corresponds to variant rs665278 [ dbSNP | Ensembl ]. | VAR_023481 | |||||
| Natural variant | 275 | 1 | G → D in CDG1H. Ref.4 | VAR_023482 | |||||
| Natural variant | 439 | 1 | I → T. Corresponds to variant rs17825668 [ dbSNP | Ensembl ]. | VAR_031596 | |||||
Experimental info | |||||||||
| Sequence conflict | 478 | 1 | F → Y in CAA12176. Ref.1 | ||||||
| Sequence conflict | 503 | 1 | I → V in AAH01133. Ref.2 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Characterization of 16 novel human genes showing high similarity to yeast sequences." Stanchi F., Bertocco E., Toppo S., Dioguardi R., Simionati B., Cannata N., Zimbello R., Lanfranchi G., Valle G. Yeast 18:69-80(2001) [PubMed: 11124703] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT SER-222. Tissue: Melanocyte. |
| [2] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Skin. |
| [3] | "A deficiency in dolichyl-P-glucose:Glc1Man9GlcNAc2-PP-dolichyl alpha3-glucosyltransferase defines a new subtype of congenital disorders of glycosylation." Chantret I., Dancourt J., Dupre T., Delenda C., Bucher S., Vuillaumier-Barrot S., Ogier de Baulny H., Peletan C., Danos O., Seta N., Durand G., Oriol R., Codogno P., Moore S.E.H. J. Biol. Chem. 278:9962-9971(2003) [PubMed: 12480927] [Abstract] Cited for: INVOLVEMENT IN CONGENITAL DISORDER OF GLYCOSYLATION TYPE I. |
| [4] | "Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency)." Schollen E., Frank C.G., Keldermans L., Reyntjens R., Grubenmann C.E., Clayton P.T., Winchester B.G., Smeitink J., Wevers R.A., Aebi M., Hennet T., Matthijs G. J. Med. Genet. 41:550-556(2004) [PubMed: 15235028] [Abstract] Cited for: VARIANTS CDG1H PRO-47 AND ASP-275, VARIANT SER-222. |
Web resources
| GeneReviews |
| GGDB GlycoGene database |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AJ224875 mRNA. Translation: CAA12176.1. Different initiation. BC001133 mRNA. Translation: AAH01133.1. |
| IPI | IPI00032370. |
| RefSeq | NP_076984.2. NM_024079.4. |
| UniGene | Hs.503368. |
3D structure databases | |
| ProteinModelPortal | Q9BVK2. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q9BVK2. 2 interactions. |
| STRING | Q9BVK2. |
Protein family/group databases | |
| CAZy | GT57. Glycosyltransferase Family 57. |
Polymorphism databases | |
| DMDM | 143811361. |
Proteomic databases | |
| PRIDE | Q9BVK2. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000299626; ENSP00000299626; ENSG00000159063. |
| GeneID | 79053. |
| KEGG | hsa:79053. |
| NMPDR | fig|9606.3.peg.6356. |
| UCSC | uc001oza.1. human. |
Organism-specific databases | |
| CTD | 79053. |
| GeneCards | GC11M077811. |
| HGNC | HGNC:23161. ALG8. |
| MIM | 608103. gene. 608104. phenotype. |
| neXtProt | NX_Q9BVK2. |
| Orphanet | 79325. CDG syndrome type Ih. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | prNOG04364. |
| GeneTree | ENSGT00550000074967. |
| HOGENOM | HBG560959. |
| HOVERGEN | HBG024332. |
| InParanoid | Q9BVK2. |
| OMA | HNLNYSS. |
| OrthoDB | EOG4XKV6N. |
| PhylomeDB | Q9BVK2. |
Enzyme and pathway databases | |
| Reactome | REACT_17015. Metabolism of proteins. |
Gene expression databases | |
| ArrayExpress | Q9BVK2. |
| Bgee | Q9BVK2. |
| CleanEx | HS_ALG8. |
| Genevestigator | Q9BVK2. |
| GermOnline | ENSG00000159063. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR004856. Glyco_trans_ALG6/ALG8. [Graphical view] |
| KO | K03849. |
| PANTHER | PTHR12413. Alg6_Alg8. 1 hit. |
| Pfam | PF03155. Alg6_Alg8. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| NextBio | 67803. |
| SOURCE | Search... |
Entry information
| Entry name | ALG8_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9BVK2 Secondary accession number(s): O60860 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | ||||||||
Relevant documents
| Human chromosome 11 Human chromosome 11: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| PATHWAY comments Index of metabolic and biosynthesis pathways |
| SIMILARITY comments Index of protein domains and families |

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